Title |
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs
|
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Published in |
Journal of Translational Medicine, August 2012
|
DOI | 10.1186/1479-5876-10-179 |
Pubmed ID | |
Authors |
Michele Carbone, Laura Korb Ferris, Francine Baumann, Andrea Napolitano, Christopher A Lum, Erin G Flores, Giovanni Gaudino, Amy Powers, Peter Bryant-Greenwood, Thomas Krausz, Elizabeth Hyjek, Rachael Tate, Joseph Friedberg, Tracey Weigel, Harvey I Pass, Haining Yang |
Abstract |
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms. To answer the question if different germline BAP1 mutations may predispose to a single syndrome with a wide phenotypic range or to distinct syndromes, we investigated the presence of melanocytic tumors in two unrelated families (L and W) with germline BAP1 mutations and increased risk of malignant mesothelioma. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | <1% |
Denmark | 1 | <1% |
Italy | 1 | <1% |
Unknown | 185 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 37 | 20% |
Researcher | 34 | 18% |
Other | 14 | 7% |
Student > Master | 14 | 7% |
Student > Doctoral Student | 12 | 6% |
Other | 40 | 21% |
Unknown | 37 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 65 | 35% |
Biochemistry, Genetics and Molecular Biology | 40 | 21% |
Agricultural and Biological Sciences | 30 | 16% |
Neuroscience | 2 | 1% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 1% |
Other | 9 | 5% |
Unknown | 40 | 21% |